Diagnostic Dilemma Illustrated Through a Case Report and Literature Review: Clear Cell Renal Cell Carcinoma and Microphthalmia Transcription Factor Family Translocation Renal Cell Carcinoma.
Main Article Content
Abstract
Sometimes, the differential diagnosis between clear cell renal cell carcinoma (ccRCC) and translocation carcinoma (tRCC) involving Microphthalmia Transcription Factor (MiT) can be very challenging due to the similarity in the clinical and pathological characteristics. We describe a 48-year-old male patient who was admitted with the complaint of right flank pain and dramatic loss of weigh. The imaging study revealed the presence of large mass lesions in the right kidney with an associated tumor thrombus in the renal vein. The pathological evaluation was suggestive of ccRCC, but some distinctive features were also suggestive of MiT family translocation-associated renal cell carcinoma (tRCC). The delineation between these entities was impossible due to the lack of availability for definitive molecular study. The patient progressed rapidly, including pulmonary and intracranial metastases, even after definitive surgical resection. This report points towards the limitations in the differential evaluation using morphology alone and the dangers in high-grade renal malignancies with uncertain lineage.
Article Details
Work published in JPMI is licensed under a
Creative Commons Attribution-NonCommercial 2.0 Generic License.
Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
References
1. Wang Y, Suarez ER, Kastrunes G, Chen J, Li J, Zhao X, et al. Evolution of cell therapy for renal cell carcinoma. Mol Cancer. 2024;23:8. doi:10.1186/s12943-023-01911-x
2. Oliveira ACF, Noronha FB, Oliveira FLQ, Oliveira FNG, Boente LA. Renal cell carcinoma. In: de Mello RAB, editor. Medical Oncology Compendium. Academic Press; 2025. p. 457–478. doi:10.1016/B978-0-443-15609-0.00029-5
3. Ye H, Qin S, Li N, Lin M, Xu Y, Li X. A rare partner of TFE3 in Xp11 translocation renal cell carcinoma: clinicopathological analyses and detection of MED15–TFE3 fusion. Biomed Res Int. 2019;2019:5974089. doi:10.1155/2019/5974089
4. Magers MJ, Udager AM, Mehra R. MiT family translocation-associated renal cell carcinoma: a contemporary update with emphasis on morphologic, immunophenotypic, and molecular mimics. Arch Pathol Lab Med. 2015;139(10):1224–1233. doi:10.5858/arpa.2015-0196-RA
5. Martina JA, Diab HI, Li H, Puertollano R. Novel roles for the MiTF/TFE family of transcription factors in organelle biogenesis, nutrient sensing, and energy homeostasis. Cell Mol Life Sci. 2014;71(13):2483–2497. doi:10.1007/s00018-014-1565-8
6. Cutruzzula P, Cahn D, Kivlin D, Tong C, Edwards D, Amster M. A review of translocation t(6;11) renal cell carcinoma in adult patients. Curr Urol. 2017;10(2):69–71. doi:10.1159/000447154
7. Liu N, Wang Z, Gan W, Xiong L, Miao B, Chen X, et al. Renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions: clinical features, treatments, and prognosis. PLoS One. 2016;11(11):e0166897. doi:10.1371/journal.pone.0166897
8. Nezami BG, MacLennan GT. Clear cell renal cell carcinoma: a comprehensive review of histopathology, genetics, and differential diagnosis. Int J Surg Pathol. 2024;33(2):265–280. doi:10.1177/10668969241256111
9. Msaouel P, Genovese G, Tannir NM. Renal cell carcinoma of variant histology: biology and therapies. Hematol Oncol Clin North Am. 2023;37(5):977–992. doi:10.1016/j.hoc.2023.04.019
10. Iqbal MA, Akhtar M, Al Dayel F, Ulmer C, Paterson MC. Use of FISH analysis for diagnosis of renal cell carcinoma subtypes. Ann Saudi Med. 1999;19(6):495–500. doi:10.5144/0256-4947.1999.495
11. Qu Y, Wu X, Anwaier A, Yang X, Li Y, Zhang C, et al. Proteogenomic characterization of MiT family translocation renal cell carcinoma. Nat Commun. 2022;13(1):7494. doi:10.1038/s41467-022-34460-w
12. Aiyer HM. MiT family translocation renal cell carcinoma in an elderly male. Indian J Pathol Microbiol. 2021 Jul 1;64(3):553–555. doi:10.4103/IJPM.IJPM_365_20
13. Zhu Y, Xia C, Ou Y, Zhang C, Li L, Yang D. TFEB-associated renal cell carcinoma: a case report and literature review. Medicine (Baltimore). 2022;101(50):e31870. doi:10.1097/MD.0000000000031870
14. Wang Y, Wang Y, Feng M, Lian X, Lei Y, Zhou H. Renal cell carcinoma associated with Xp11.2 translocation/transcription factor E3 gene fusion: an adult case report and literature review. J Int Med Res. 2020;48(10):300060520942095. doi:10.1177/0300060520942095
15. Bambury RM, Battley JE, McCarthy A, Brady C, O’Reilly S, Kelly PJ, et al. Translocation renal cell carcinomas: an evolving entity and a member of the microphthalmia transcription factor–associated family of tumors. Clin Genitourin Cancer. 2013;11(3):357–361. doi:10.1016/j.clgc.2012.12.006
16. Ritterhouse LL, Cykowski MD, Hassell LA, Slobodov G, Bane BL. Melanotic Xp11 translocation renal cancer: report of a case with a unique intratumoral sarcoid-like reaction. Diagn Pathol. 2014;9:81. doi:10.1186/1746-1596-9-81
17. Chow A, Shaker N, Parwani A. Renal cell carcinoma, MiTF/TFE3 family translocation–associated subtype. J Clin Images Med Case Rep. 2022;3(3):1717.